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Technical standards for the interpretation and reporting of constitutional copy-number variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics (ACMG) and the Clinical Genome Resource (ClinGen). Genet Med. 2020 Feb;22(2):245-257. doi: 10.1038/s41436-019-0686-8. Epub 2019 Nov 6.
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Baraitser-Winter cerebrofrontofacial syndrome: delineation of the spectrum in 42 cases. Eur J Hum Genet. 2015 Mar;23(3):292-301. doi: 10.1038/ejhg.2014.95. Epub 2014 Jul 23.
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PTPN3 suppresses lung cancer cell invasiveness by counteracting Src-mediated DAAM1 activation and actin polymerization.Oncogene. 2019 Oct;38(44):7002-7016. doi: 10.1038/s41388-019-0948-6. Epub 2019 Aug 12.
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Proteomic analysis of differentially expressed proteins in lung cancer in Wistar rats using NNK as an inducer.Chem Biol Interact. 2013 Jul 5;204(2):125-34. doi: 10.1016/j.cbi.2013.05.004. Epub 2013 May 18.
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Changes in Vasodilator-Stimulated Phosphoprotein Phosphorylation, Profilin-1, and Cofilin-1 in Accreta and Protection by DHA.Reprod Sci. 2019 Jun;26(6):757-765. doi: 10.1177/1933719118792095. Epub 2018 Aug 9.
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On the influence of cannabinoids on cell morphology and motility of glioblastoma cells.PLoS One. 2019 Feb 12;14(2):e0212037. doi: 10.1371/journal.pone.0212037. eCollection 2019.
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Mutant ACTB mRNA 3'-UTR promotes hepatocellular carcinoma development by regulating miR-1 and miR-29a.Cell Signal. 2020 Mar;67:109479. doi: 10.1016/j.cellsig.2019.109479. Epub 2019 Dec 14.
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Changes of hippocampus proteomic profiles after blueberry extracts supplementation in APP/PS1 transgenic mice.Nutr Neurosci. 2020 Jan;23(1):75-84. doi: 10.1080/1028415X.2018.1471251. Epub 2018 May 21.
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Transcriptome sequencing and genome-wide association analyses reveal lysosomal function and actin cytoskeleton remodeling in schizophrenia and bipolar disorder.Mol Psychiatry. 2015 May;20(5):563-572. doi: 10.1038/mp.2014.82. Epub 2014 Aug 12.
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Involvement of Actin Cytoskeletal Components in Breast Cancer Cell Fusion with Human Mesenchymal Stroma/Stem-Like Cells.Int J Mol Sci. 2019 Feb 18;20(4):876. doi: 10.3390/ijms20040876.
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Effects of antioxidant supplementation on mRNA expression of glucose-6-phosphate dehydrogenase, -actin and 18S rRNA in the anterior capsule of the lens in cataract patients.Exp Eye Res. 2012 Mar;96(1):48-54. doi: 10.1016/j.exer.2012.01.001. Epub 2012 Jan 20.
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PRP4 kinase induces actin rearrangement and epithelial-mesenchymal transition through modulation of the actin-binding protein cofilin.Exp Cell Res. 2018 Aug 1;369(1):158-165. doi: 10.1016/j.yexcr.2018.05.018. Epub 2018 May 19.
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Cancer-associated fibroblasts promote colorectal cancer progression by secreting CLEC3B.Cancer Biol Ther. 2019;20(7):967-978. doi: 10.1080/15384047.2019.1591122. Epub 2019 Mar 20.
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De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet. 2012 Feb 26;44(4):440-4, S1-2. doi: 10.1038/ng.1091.
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The Gene Curation Coalition: A global effort to harmonize gene-disease evidence resources. Genet Med. 2022 Aug;24(8):1732-1742. doi: 10.1016/j.gim.2022.04.017. Epub 2022 May 4.
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A mutation of beta -actin that alters depolymerization dynamics is associated with autosomal dominant developmental malformations, deafness, and dystonia. Am J Hum Genet. 2006 Jun;78(6):947-60. doi: 10.1086/504271. Epub 2006 Apr 21.
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Dystonia-deafness syndrome caused by ACTB p.Arg183Trp heterozygosity shows striatal dopaminergic dysfunction and response to pallidal stimulation.J Neurodev Disord. 2018 May 22;10(1):17. doi: 10.1186/s11689-018-9235-z.
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The ACTB Variants and Alcohol Drinking Confer Joint Effect to Ischemic Stroke in Chinese Han Population.J Atheroscler Thromb. 2020 Mar 1;27(3):226-244. doi: 10.5551/jat.49536. Epub 2019 Jul 19.
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Real-time imaging of individual virion-triggered cortical actin dynamics for human immunodeficiency virus entry into resting CD4 T cells.Nanoscale. 2020 Jan 7;12(1):115-129. doi: 10.1039/c9nr07359k. Epub 2019 Nov 27.
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Twinfilin 2a regulates platelet reactivity and turnover in mice.Blood. 2017 Oct 12;130(15):1746-1756. doi: 10.1182/blood-2017-02-770768. Epub 2017 Jul 25.
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Whole-Transcriptome Analysis Reveals Dysregulation of Actin-Cytoskeleton Pathway in Intellectual Disability Patients.Neuroscience. 2019 Apr 15;404:423-444. doi: 10.1016/j.neuroscience.2019.01.029. Epub 2019 Feb 10.
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Identification of robust reference genes for studies of gene expression in FFPE melanoma samples and melanoma cell lines.Melanoma Res. 2020 Feb;30(1):26-38. doi: 10.1097/CMR.0000000000000644.
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Cardioplegia prevents ischemia-induced transcriptional alterations of cytoprotective genes in rat hearts: a DNA microarray study.J Thorac Cardiovasc Surg. 2005 Oct;130(4):1151. doi: 10.1016/j.jtcvs.2005.06.027.
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Serological Assessment of Activated Fibroblasts by alpha-Smooth Muscle Actin (-SMA): A Noninvasive Biomarker of Activated Fibroblasts in Lung Disorders.Transl Oncol. 2019 Feb;12(2):368-374. doi: 10.1016/j.tranon.2018.11.004. Epub 2018 Nov 30.
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Identification of DNA hydroxymethylation associated genes in osteoarthritis by combined analysis of hydroxymethylation and gene expression.J Orthop Sci. 2020 Jul;25(4):700-707. doi: 10.1016/j.jos.2019.09.011. Epub 2019 Oct 25.
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Congenital heart defects are rarely caused by mutations in cardiac and smooth muscle actin genes.Biomed Res Int. 2015;2015:127807. doi: 10.1155/2015/127807. Epub 2015 Mar 10.
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Severe forms of Baraitser-Winter syndrome are caused by ACTB mutations rather than ACTG1 mutations.Eur J Hum Genet. 2014 Feb;22(2):179-83. doi: 10.1038/ejhg.2013.130. Epub 2013 Jun 12.
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Counter-regulation of regulatory T cells by autoreactive CD8(+) T cells in rheumatoid arthritis.J Autoimmun. 2019 May;99:81-97. doi: 10.1016/j.jaut.2019.02.001. Epub 2019 Feb 16.
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Dysregulated Prefrontal Cortical RhoA Signal Transduction in Bipolar Disorder with Psychosis: New Implications for Disease Pathophysiology.Cereb Cortex. 2020 Jan 10;30(1):59-71. doi: 10.1093/cercor/bhz070.
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Kainate-induced seizures alter protein composition and N-methyl-D-aspartate receptor function of rat forebrain postsynaptic densities.Neuroscience. 2001;102(1):65-74. doi: 10.1016/s0306-4522(00)00469-3.
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Carcinoma associated fibroblasts (CAFs) promote breast cancer motility by suppressing mammalian Diaphanous-related formin-2 (mDia2).PLoS One. 2018 Mar 29;13(3):e0195278. doi: 10.1371/journal.pone.0195278. eCollection 2018.
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A recurrent de novo mutation in ACTG1 causes isolated ocular coloboma.Hum Mutat. 2017 Aug;38(8):942-946. doi: 10.1002/humu.23246. Epub 2017 Jun 6.
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Exomic and Epigenomic Analyses in a Pair of Monozygotic Twins Discordant for Cryptorchidism.Twin Res Hum Genet. 2017 Aug;20(4):349-354. doi: 10.1017/thg.2017.33. Epub 2017 Jun 13.
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7p22.1 microdeletions involving ACTB associated with developmental delay, short stature, and microcephaly.Eur J Med Genet. 2016 Oct;59(10):502-6. doi: 10.1016/j.ejmg.2016.09.008. Epub 2016 Sep 12.
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Global gene expression profiling of chemically induced rat mammary gland carcinomas and adenomas.Toxicol Pathol. 2005;33(7):768-75. doi: 10.1080/01926230500437027.
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Expression of basic fibroblast growth factor, CD31, and -smooth muscle actin and esophageal cancer recurrence after definitive chemoradiation.Tumour Biol. 2014 Jul;35(7):7275-82. doi: 10.1007/s13277-014-1987-9. Epub 2014 Apr 29.
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Adult neuroblastoma in the retroperitoneum: A case report.Medicine (Baltimore). 2018 Dec;97(51):e13750. doi: 10.1097/MD.0000000000013750.
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Integrative omics data analyses of repeated dose toxicity of valproic acid in vitro reveal new mechanisms of steatosis induction. Toxicology. 2018 Jan 15;393:160-170.
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Comparison of phenotypic and transcriptomic effects of false-positive genotoxins, true genotoxins and non-genotoxins using HepG2 cells. Mutagenesis. 2011 Sep;26(5):593-604.
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Transcriptional and Metabolic Dissection of ATRA-Induced Granulocytic Differentiation in NB4 Acute Promyelocytic Leukemia Cells. Cells. 2020 Nov 5;9(11):2423. doi: 10.3390/cells9112423.
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Bringing in vitro analysis closer to in vivo: studying doxorubicin toxicity and associated mechanisms in 3D human microtissues with PBPK-based dose modelling. Toxicol Lett. 2018 Sep 15;294:184-192.
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Physiological and toxicological transcriptome changes in HepG2 cells exposed to copper. Physiol Genomics. 2009 Aug 7;38(3):386-401.
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Low doses of cisplatin induce gene alterations, cell cycle arrest, and apoptosis in human promyelocytic leukemia cells. Biomark Insights. 2016 Aug 24;11:113-21.
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Quantitative proteomics reveals a broad-spectrum antiviral property of ivermectin, benefiting for COVID-19 treatment. J Cell Physiol. 2021 Apr;236(4):2959-2975. doi: 10.1002/jcp.30055. Epub 2020 Sep 22.
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Essential role of cell cycle regulatory genes p21 and p27 expression in inhibition of breast cancer cells by arsenic trioxide. Med Oncol. 2011 Dec;28(4):1225-54.
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Microarray analysis of H2O2-, HNE-, or tBH-treated ARPE-19 cells. Free Radic Biol Med. 2002 Nov 15;33(10):1419-32.
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Selenium and vitamin E: cell type- and intervention-specific tissue effects in prostate cancer. J Natl Cancer Inst. 2009 Mar 4;101(5):306-20.
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Identification of biomarkers and outcomes of endocrine disruption in human ovarian cortex using In Vitro Models. Toxicology. 2023 Feb;485:153425. doi: 10.1016/j.tox.2023.153425. Epub 2023 Jan 5.
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Cannabidiol Displays Proteomic Similarities to Antipsychotics in Cuprizone-Exposed Human Oligodendrocytic Cell Line MO3.13. Front Mol Neurosci. 2021 May 28;14:673144. doi: 10.3389/fnmol.2021.673144. eCollection 2021.
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Repurposing L-menthol for systems medicine and cancer therapeutics? L-menthol induces apoptosis through caspase 10 and by suppressing HSP90. OMICS. 2016 Jan;20(1):53-64.
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Effect of cyclophosphamide on gene expression of cytochromes p450 and beta-actin in the HL-60 cell line. Eur J Pharmacol. 2002 Aug 9;449(3):197-205.
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Mifepristone induced progesterone withdrawal reveals novel regulatory pathways in human endometrium. Mol Hum Reprod. 2007 Sep;13(9):641-54.
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Mitochondrial proteomics investigation of a cellular model of impaired dopamine homeostasis, an early step in Parkinson's disease pathogenesis. Mol Biosyst. 2014 Jun;10(6):1332-44.
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Consequences of the natural retinoid/retinoid X receptor ligands action in human breast cancer MDA-MB-231 cell line: Focus on functional proteomics. Toxicol Lett. 2017 Nov 5;281:26-34. doi: 10.1016/j.toxlet.2017.09.001. Epub 2017 Sep 5.
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Comparative proteomics reveals concordant and discordant biochemical effects of caffeine versus epigallocatechin-3-gallate in human endothelial cells. Toxicol Appl Pharmacol. 2019 Sep 1;378:114621. doi: 10.1016/j.taap.2019.114621. Epub 2019 Jun 10.
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ON 01910.Na is selectively cytotoxic for chronic lymphocytic leukemia cells through a dual mechanism of action involving PI3K/AKT inhibition and induction of oxidative stress. Clin Cancer Res. 2012 Apr 1;18(7):1979-91. doi: 10.1158/1078-0432.CCR-11-2113. Epub 2012 Feb 20.
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Suppression of cancer relapse and metastasis by inhibiting cancer stemness. Proc Natl Acad Sci U S A. 2015 Feb 10;112(6):1839-44. doi: 10.1073/pnas.1424171112. Epub 2015 Jan 20.
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Clinical response to Nabiximols correlates with the downregulation of immune pathways in multiple sclerosis. Eur J Neurol. 2018 Jul;25(7):934-e70. doi: 10.1111/ene.13623. Epub 2018 Apr 16.
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A high concentration of genistein down-regulates activin A, Smad3 and other TGF-beta pathway genes in human uterine leiomyoma cells. Exp Mol Med. 2012 Apr 30;44(4):281-92.
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Determination of Protein Haptenation by Chemical Sensitizers Within the Complexity of the Human Skin Proteome. Toxicol Sci. 2018 Apr 1;162(2):429-438. doi: 10.1093/toxsci/kfx265.
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Transcriptional signature of human macrophages exposed to the environmental contaminant benzo(a)pyrene. Toxicol Sci. 2010 Apr;114(2):247-59.
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Endoplasmic reticulum stress and MAPK signaling pathway activation underlie leflunomide-induced toxicity in HepG2 Cells. Toxicology. 2017 Dec 1;392:11-21.
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Inhibition of the 26S proteasome blocks progesterone receptor-dependent transcription through failed recruitment of RNA polymerase II. J Steroid Biochem Mol Biol. 2005 Mar;94(4):337-46.
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Identification of mechanisms of action of bisphenol a-induced human preadipocyte differentiation by transcriptional profiling. Obesity (Silver Spring). 2014 Nov;22(11):2333-43.
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Quantitative phosphoproteomics reveal cellular responses from caffeine, coumarin and quercetin in treated HepG2 cells. Toxicol Appl Pharmacol. 2022 Aug 15;449:116110. doi: 10.1016/j.taap.2022.116110. Epub 2022 Jun 7.
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Transcriptomic analysis of human primary bronchial epithelial cells after chloropicrin treatment. Chem Res Toxicol. 2015 Oct 19;28(10):1926-35.
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Annexin A3 may play an important role in ochratoxin-induced malignant transformation of human gastric epithelium cells. Toxicol Lett. 2019 Oct 1;313:150-158. doi: 10.1016/j.toxlet.2019.07.002. Epub 2019 Jul 2.
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Cytotoxicity and gene array analysis of alveolar epithelial A549 cells exposed to paraquat. Chem Biol Interact. 2010 Dec 5;188(3):427-36.
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Glyphosate-based herbicides at low doses affect canonical pathways in estrogen positive and negative breast cancer cell lines. PLoS One. 2019 Jul 11;14(7):e0219610. doi: 10.1371/journal.pone.0219610. eCollection 2019.
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Effect of metals on -actin and total protein synthesis in cultured human intestinal epithelial cells. J Pharmacol Toxicol Methods. 2011 Jan-Feb;63(1):47-58. doi: 10.1016/j.vascn.2010.04.012. Epub 2010 May 6.
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Proteomic analysis of proteins associated with cellular senescence by calorie restriction in mesenchymal stem cells. In Vitro Cell Dev Biol Anim. 2012 Mar;48(3):186-95.
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Evaluation of an in vitro model of androgen ablation and identification of the androgen responsive proteome in LNCaP cells. Proteomics. 2007 Jan;7(1):47-63.
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Paraoxon-induced protein expression changes to SH-SY5Y cells. Chem Res Toxicol. 2010 Nov 15;23(11):1656-62. doi: 10.1021/tx100192f. Epub 2010 Oct 8.
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A proteomic analysis of acute leukemia cells treated with 9-hydroxyoctadecadienoic acid. Lipids Health Dis. 2016 Nov 10;15(1):192. doi: 10.1186/s12944-016-0359-4.
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The effects of indirubin-3'-monoxime, a novel AHR ligand, on stress and toxicity-related gene/protein expression in human U937 cells undergoing differentiation and activation. J Immunotoxicol. 2006 Jan 1;3(1):1-10.
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Identification of potential protein targets of isothiocyanates by proteomics. Chem Res Toxicol. 2011 Oct 17;24(10):1735-43. doi: 10.1021/tx2002806. Epub 2011 Aug 26.
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Site-specific protein adducts of 4-hydroxy-2(E)-nonenal in human THP-1 monocytic cells: protein carbonylation is diminished by ascorbic acid. Chem Res Toxicol. 2010 Jan;23(1):37-47. doi: 10.1021/tx9002462.
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